Mutagenetix > Incidental Mutation

Incidental Mutation 'R0628:Ccdc17'

57690

Institutional Source

Beutler Lab

Gene Symbol

Ccdc17

Ensembl Gene

ENSMUSG00000034035

Gene Name

coiled-coil domain containing 17

Synonyms

1100001F07Rik

MMRRC Submission

038817-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R0628 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116453927-116457463 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116455745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 292 (L292H)

Ref Sequence

ENSEMBL: ENSMUSP00000059848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030456] [ENSMUST00000030457] [ENSMUST00000030460] [ENSMUST00000051869] [ENSMUST00000081182]

AlphaFold

Q8CE13

Predicted Effect

probably benign
Transcript: ENSMUST00000030456

SMART Domains

Protein: ENSMUSP00000030456
Gene: ENSMUSG00000028693

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
TPR	43	76	8.51e0	SMART
low complexity region	111	126	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
low complexity region	336	352	N/A	INTRINSIC
low complexity region	455	478	N/A	INTRINSIC
low complexity region	492	503	N/A	INTRINSIC
TPR	528	561	3.05e0	SMART
TPR	570	603	2.38e-2	SMART
low complexity region	620	640	N/A	INTRINSIC
low complexity region	703	715	N/A	INTRINSIC
low complexity region	742	759	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000030457

SMART Domains

Protein: ENSMUSP00000030457
Gene: ENSMUSG00000028693

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
TPR	43	76	8.51e0	SMART
low complexity region	111	126	N/A	INTRINSIC
low complexity region	133	153	N/A	INTRINSIC
low complexity region	167	178	N/A	INTRINSIC
TPR	203	236	3.05e0	SMART
TPR	245	278	2.38e-2	SMART
low complexity region	295	315	N/A	INTRINSIC
low complexity region	378	390	N/A	INTRINSIC
low complexity region	417	434	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000030460

SMART Domains

Protein: ENSMUSP00000030460
Gene: ENSMUSG00000034042

Domain	Start	End	E-Value	Type
low complexity region	204	219	N/A	INTRINSIC
low complexity region	237	251	N/A	INTRINSIC
low complexity region	289	320	N/A	INTRINSIC
Pfam:Vasculin	376	470	5.1e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000051869
AA Change: L292H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059848
Gene: ENSMUSG00000034035
AA Change: L292H

Domain	Start	End	E-Value	Type
coiled coil region	97	161	N/A	INTRINSIC
coiled coil region	219	270	N/A	INTRINSIC
low complexity region	415	427	N/A	INTRINSIC
low complexity region	523	537	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081182

SMART Domains

Protein: ENSMUSP00000079946
Gene: ENSMUSG00000028693

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
TPR	43	76	6.2e-2	SMART
low complexity region	84	99	N/A	INTRINSIC
low complexity region	106	126	N/A	INTRINSIC
low complexity region	140	151	N/A	INTRINSIC
TPR	176	209	1.4e-2	SMART
TPR	218	251	1.1e-4	SMART
low complexity region	268	288	N/A	INTRINSIC
low complexity region	351	363	N/A	INTRINSIC
low complexity region	390	407	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121907

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155398

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151441

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142815

Meta Mutation Damage Score

0.0957

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.6%

Validation Efficiency

98% (58/59)

Allele List at MGI

All alleles(2) : Targeted, knock-out(1) Gene trapped(1)

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	A	C	18: 65,440,367 (GRCm39)	V809G	possibly damaging	Het
Bank1	T	A	3: 135,772,151 (GRCm39)	D493V	probably damaging	Het
Camk2d	T	C	3: 126,604,273 (GRCm39)		probably benign	Het
Ccdc7b	A	G	8: 129,837,498 (GRCm39)		probably benign	Het
Cd34	C	A	1: 194,641,525 (GRCm39)	T317K	probably damaging	Het
Col6a5	C	G	9: 105,789,649 (GRCm39)		probably null	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Copa	T	C	1: 171,918,592 (GRCm39)		probably benign	Het
Coq7	T	C	7: 118,128,867 (GRCm39)	D56G	probably damaging	Het
Dlg4	C	T	11: 69,922,610 (GRCm39)	T201I	probably damaging	Het
Dnah7a	T	A	1: 53,536,264 (GRCm39)	D2593V	probably benign	Het
Ect2l	T	A	10: 18,018,788 (GRCm39)	E536V	probably damaging	Het
Emilin3	A	G	2: 160,752,799 (GRCm39)		probably benign	Het
Eml2	T	C	7: 18,935,479 (GRCm39)		probably benign	Het
Fam135b	C	T	15: 71,320,505 (GRCm39)		probably benign	Het
Fhip2b	T	C	14: 70,825,161 (GRCm39)	T392A	possibly damaging	Het
Gart	C	T	16: 91,430,790 (GRCm39)	R424H	probably benign	Het
Gramd1a	A	G	7: 30,842,049 (GRCm39)	L80P	probably damaging	Het
Herc1	A	G	9: 66,358,163 (GRCm39)	K2415E	probably benign	Het
Ica1	C	T	6: 8,644,256 (GRCm39)		probably benign	Het
Idi2l	T	A	13: 8,990,958 (GRCm39)		probably benign	Het
Iyd	A	T	10: 3,497,127 (GRCm39)	M161L	probably damaging	Het
Kdm5a	T	C	6: 120,392,200 (GRCm39)	L974S	probably damaging	Het
Kif1a	T	C	1: 92,947,605 (GRCm39)	D1619G	probably damaging	Het
Lypd8	C	T	11: 58,275,499 (GRCm39)	T78M	probably damaging	Het
Marchf10	T	A	11: 105,280,986 (GRCm39)	H433L	probably benign	Het
Mbp	A	G	18: 82,572,742 (GRCm39)	Y13C	probably damaging	Het
Mertk	A	T	2: 128,580,233 (GRCm39)	N229I	probably damaging	Het
Msrb2	T	A	2: 19,398,091 (GRCm39)	D116E	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Otoa	G	A	7: 120,744,873 (GRCm39)		probably benign	Het
Pclo	A	G	5: 14,719,552 (GRCm39)	T1230A	unknown	Het
Polrmt	T	C	10: 79,574,979 (GRCm39)	T851A	possibly damaging	Het
Prpf6	C	T	2: 181,277,841 (GRCm39)	P401L	probably damaging	Het
Rasgrp4	A	G	7: 28,839,635 (GRCm39)		probably benign	Het
Rc3h2	A	T	2: 37,272,064 (GRCm39)		probably benign	Het
Reps1	A	G	10: 17,996,841 (GRCm39)	T588A	probably damaging	Het
Rtel1	A	C	2: 180,993,674 (GRCm39)	S782R	probably benign	Het
Sacm1l	A	G	9: 123,378,060 (GRCm39)		probably benign	Het
Skic3	G	C	13: 76,298,848 (GRCm39)	V1185L	possibly damaging	Het
Skint5	A	T	4: 113,588,266 (GRCm39)	L728*	probably null	Het
Slc9b2	T	A	3: 135,029,536 (GRCm39)		probably benign	Het
Snapc3	A	T	4: 83,368,397 (GRCm39)	H298L	probably benign	Het
Tex9	A	T	9: 72,399,233 (GRCm39)	M1K	probably null	Het
Trappc13	C	T	13: 104,291,424 (GRCm39)		probably benign	Het
Usp3	C	T	9: 66,425,726 (GRCm39)	R467H	probably benign	Het
Vmn2r11	T	A	5: 109,195,597 (GRCm39)	L576F	possibly damaging	Het
Wnk4	T	C	11: 101,165,849 (GRCm39)	F792S	probably benign	Het
Zfp1007	T	C	5: 109,826,442 (GRCm39)		probably null	Het
Zfp280d	T	C	9: 72,269,230 (GRCm39)	V764A	probably benign	Het
Zfp69	G	A	4: 120,806,622 (GRCm39)	Q4*	probably null	Het
Zfp692	T	G	11: 58,200,449 (GRCm39)	L206R	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		probably benign	Het
Zic4	T	A	9: 91,266,170 (GRCm39)	Y264*	probably null	Het
Zic4	T	A	9: 91,266,172 (GRCm39)	M272K	probably benign	Het
Zscan4b	A	T	7: 10,635,390 (GRCm39)	N284K	probably damaging	Het

Other mutations in Ccdc17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01661:Ccdc17	APN	4	116,455,063 (GRCm39)	missense	probably benign
IGL03106:Ccdc17	APN	4	116,454,033 (GRCm39)	splice site	probably null
IGL03169:Ccdc17	APN	4	116,454,957 (GRCm39)	missense	probably damaging	1.00
IGL03288:Ccdc17	APN	4	116,456,626 (GRCm39)	missense	probably damaging	1.00
dandy	UTSW	4	116,456,789 (GRCm39)	missense	probably damaging	1.00
Dondi	UTSW	4	116,455,745 (GRCm39)	missense	probably damaging	1.00
G5030:Ccdc17	UTSW	4	116,455,699 (GRCm39)	missense	probably benign	0.42
R1033:Ccdc17	UTSW	4	116,454,077 (GRCm39)	nonsense	probably null
R2041:Ccdc17	UTSW	4	116,456,789 (GRCm39)	missense	probably damaging	1.00
R3107:Ccdc17	UTSW	4	116,455,464 (GRCm39)	missense	probably benign	0.02
R3122:Ccdc17	UTSW	4	116,456,749 (GRCm39)	unclassified	probably benign
R4498:Ccdc17	UTSW	4	116,454,438 (GRCm39)	unclassified	probably benign
R5705:Ccdc17	UTSW	4	116,454,066 (GRCm39)	missense	probably benign	0.10
R6052:Ccdc17	UTSW	4	116,457,145 (GRCm39)	splice site	probably null
R6083:Ccdc17	UTSW	4	116,454,123 (GRCm39)	missense	possibly damaging	0.89
R6925:Ccdc17	UTSW	4	116,455,407 (GRCm39)	missense	probably damaging	1.00
R7677:Ccdc17	UTSW	4	116,454,962 (GRCm39)	critical splice donor site	probably null
R7847:Ccdc17	UTSW	4	116,457,103 (GRCm39)	missense	probably benign	0.34
R8195:Ccdc17	UTSW	4	116,456,213 (GRCm39)	missense	probably damaging	0.99
R8195:Ccdc17	UTSW	4	116,456,211 (GRCm39)	missense	possibly damaging	0.75
R8428:Ccdc17	UTSW	4	116,456,823 (GRCm39)	missense	probably damaging	1.00
R8750:Ccdc17	UTSW	4	116,457,129 (GRCm39)	missense	possibly damaging	0.93
R9296:Ccdc17	UTSW	4	116,456,586 (GRCm39)	missense	probably damaging	1.00
R9483:Ccdc17	UTSW	4	116,454,144 (GRCm39)	missense	probably benign	0.42
R9526:Ccdc17	UTSW	4	116,455,994 (GRCm39)	missense	possibly damaging	0.69
R9589:Ccdc17	UTSW	4	116,454,791 (GRCm39)	missense	probably benign	0.25
R9715:Ccdc17	UTSW	4	116,455,090 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGCAGAAAGTCCTGAGTCTGTCG -3'
(R):5'- CAGTCCTACAGAACTGCAATCTGCC -3'

Sequencing Primer
(F):5'- GATGAAGTCCATGTCTGTAACG -3'
(R):5'- ACTGCAATCTGCCCATGATCC -3'

Posted On

2013-07-11